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Omenn syndrome: two case reports.
[omenn syndrome]
Omenn
syndrome
is
a
variant
of
combined
severe
immunodeficiency
due
to
mutations
in
RAG
genes
.
It
is
characterized
by
polymorph
symptoms
and
lethal
outcome
.
We
report
on
two
cases
of
Omenn
syndrome
.
Infants
were
aged
50
and
46
days
.
The
clinical
and
biological
signs
were
typical
and
complete
in
the
first
case
.
In
the
second
case
,
only
the
cutaneous
signs
were
present
.
Diagnosis
was
confirmed
by
genetic
study
.
The
Rag
1
T
631
mutation
was
found
in
these
two
patients
.
Hematopoietic
stem
cell
transplantation
could
not
be
done
and
the
evolution
was
fatal
in
both
cases
because
of
severe
infectious
episodes
.
Prenatal
diagnosis
was
performed
in
the
two
families
and
each
family
has
currently
a
healthy
child
.
In
conclusion
,
early
diagnosis
of
Omenn
syndrome
may
avoid
infectious
complications
responsible
for
delay
in
therapeutic
management
.
Genetic
study
confirms
the
diagnosis
.
The
treatment
usually
consists
of
hematopoietic
stem
cell
transplantation
in
association
with
immunosuppressive
drugs
.
Prenatal
diagnosis
is
very
important
to
allow
parents
to
have
healthy
children
.
Diseases
Validation
Diseases presenting
"prenatal diagnosis"
symptom
22q11.2 deletion syndrome
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
aromatase deficiency
benign recurrent intrahepatic cholestasis
cadasil
canavan disease
classical phenylketonuria
cohen syndrome
congenital adrenal hyperplasia
congenital diaphragmatic hernia
congenital toxoplasmosis
cystinuria
dentinogenesis imperfecta
epidermolysis bullosa simplex
harlequin ichthyosis
holt-oram syndrome
homocystinuria without methylmalonic aciduria
hydrocephalus with stenosis of the aqueduct of sylvius
junctional epidermolysis bullosa
kindler syndrome
krabbe disease
lamellar ichthyosis
megacystis-microcolon-intestinal hypoperistalsis syndrome
monosomy 21
neonatal adrenoleukodystrophy
oculocutaneous albinism
omenn syndrome
phenylketonuria
primary hyperoxaluria type 1
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
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